Pharmacogenomics Reporter (subscription required) describes an intriguing twist in the ongoing struggle between the nascent personal genomics industry and regulatory bodies: apparently the FDA is exploring the possibility of collaborating with consumer genomics providers to track adverse drug reactions:

Lawrence Lesko, director of FDA’s Office of Clinical Pharmacology, said the agency has already begun preliminary discussions with some undisclosed personal genomics firms “to evaluate the feasibility” of forging such alliances.

In marketing ancestry and disease-predisposition genetic testing services directly to consumers, personal genomics companies are building large electronic databases of clinical and genomic information that the FDA believes can be useful in tracking adverse drug reactions in a post-marketing setting.

The major advantage of the databases accumulated by personal genomics providers, of course, is that you can immediately look for common genetic variants associated with variation in the risk for any newly identified adverse response:

[Lesko says] “We’re exploring the possibility that when you do post-marketing surveillance of drugs, and you have hundreds of thousands of genomes analyzed in your database, what would stop you from going back and surveying” whether customers with certain genetic polymorphisms are on certain drugs and have experienced certain adverse reactions?

Before such a collaboration becomes feasible, two things need to change. Firstly, personal genomics companies need to recruit far larger cohorts of consumers – the article quotes deCODE Genetics’ Jeffrey Gulcher saying that such a project would require genotype data from “at least 100,000 patients on high-density arrays”. While it’s hard to extract hard numbers from the current Big Three providers (23andMe, deCODEme and Navigenics) I understand that current sales are somewhere in the low thousands, so it will take major recruiting drives to hit the patient numbers required.

Secondly, the companies will need to extract extremely accurate and detailed clinical information from their customers. Any genome-wide association study is only as good as the clinical data it’s based around, and it’s hard to see how the current approaches used by personal genomics companies (mainly voluntary survey questions) will provide either the time resolution or the accuracy required to generate useful genetic associations with adverse drug reactions.

The PGx Reporter article suggests that a more realistic prospect for collaboration may be provided by the free genotyping service offered by the non-profit Coriell Institute for Medical Research, which is looking to recruit 10,000 individuals by the end of next year and 100,000 volunteers in total. A representative from the CIMR notes one of the major advantages of their program compared to those offered by consumer genomics companies: it will include representation from a much broader slice of society.

“We not only need to reach those that could afford thousands of dollars of genetic testing, but also those that are in a very minority population who perhaps don’t even have very good health coverage.”

The volunteers of lower socioeconomic status recruited by the CIMR – who are highly unlikely to fork out for a commercial genome scan, even at 23andMe’s new low low price – may well be enriched for the types of adverse health event that the FDA is interested in, as opposed to the upper-middle-class tech-savvy types targeted by personal genomics companies.

Nonetheless, 23andMe can offer one substantial advantage over CIMR’s product: they can make the process of exploring your genome fun and cool, which may well prove important in encouraging customers to keep returning to fill in new surveys and perform additional genetic tests. That’s a hard act for a sober outfit like Coriell to follow. Just compare the websites (23andMe, CIMR, screenshots below) – which one would you be most attracted by?

Comments

I truly dislike Coriell’s paternalistic approach, since they take it upon themselves to decide what data patients will have access to. I much prefer 23andme’s approach since they let us have the raw data, and trust us to understand the nuances.

That fact, the “cool” factor mentioned above, and the continuously dropping price of sequencing make me think that the future lies in private sequencing companies.

As for surveys: (1) sufficiently high numbers of respondents can overcome some level of “accuracy problems” in the data, and (2) if the data is valuable enough, respondents can be compensated for their participation which can further increase the number of volunteers.

I completely agree about the unpleasant paternalism of Coriell’s offering – it’s the same old-school medical “don’t worry your pretty little head about the details” approach that Navigenics takes, which I’ve previously criticised.

But as for whether the consumer genomics industry will ultimately win out over publicly-funded ventures – I’m still open-minded on this issue. I find the 23andMe approach vastly more appealing personally, but their business model is still untested. I guess to some extent it will come down to how much governments are willing to invest in developing personalised medicine infrastructure (in direct competition to DTC providers). In Europe this investment will likely by much higher than in the US, and the prospects of private genomics companies in Europe will be correspondingly gloomier.

“completely ethical”? Funny, my view of paternalism is “completely UNethical”. As for the $399 (which will keep dropping over time), it pays for:
(1) Early adopter status;
(2) access to ALL of your data, not a tiny sub-set;
(3) the “flashy” website, which is vital to understanding and working with that data.

This is one of the niches that DTC companies will have to inhabit if they are to survive increased government funding of “free” services.

Ethics: I think it’s unethical to withhold information that belongs to a patient just because Coriell think it’s not medically actionable. (1) This is axiomatically wrong (2) the info could be actionable in other ways (eg: saving more for possibly greater future health care costs, modifying wills, etc.)

But then again I always ask for all copies of my medical tests (printed blood work results, CD copies of X-rays and MRIs, etc.) It’s my information!

“Product is not reliable”: The product is very reliable. It simply cannot furnish certainties. Yet. So what? Partial or preliminary information, when properly nuanced, can be very useful.

“prometheus and SNPedia”: Sure, those tools are crude today. Just like Firefox v.0.5 sucked. It will get better very fast.

“Flashy”: A good user interface is a premium feature to most people and provides good value. Look at Apple vs IBM, Windows vs. DOS. Plus I don’t have time to pour through every single study. They do the hard legwork, and organize the information. I’ll dig into the few studies that concern me most.